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General Information
Symbol
Dmel\TorsinKO78
Species
D. melanogaster
Name
FlyBase ID
FBal0264562
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dtorsinKO78
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Comment:

Deletion by targeted homologous recombination of sequences from the initiator ATG to 16 bases upstream of the translation termination codon.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Torsin coding sequence from the translation start codon to 16 bases upstream of the translation termination codon has been deleted and replaced by a w+mW.hs marker.

Insertion components
TI{TI}TorsinKO78
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 1 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Hemizygous TorsinKO78 flies survive through larval stages and most die during pupation, and they spend significantly more time in the third instar larval stage than controls. Hemizygous TorsinKO78 third instar larvae display a significantly smaller fat body, and reduced body weight, but no overall different in body size; fat body cells are smaller due to a failure to undergo expansion during larval stages; lipid droplet size is increased in early L3 fat cells and lipid droplets are often fused in late L3 fat cells, but there is no obvious change in lipid droplet density; tubular ER structures appear to be missing; as compared to controls.

Mutant muscle and epithelial cells have large ribonucleoprotein (megaRNP) granules tethered to the inner nuclear membrane.

The number of normal synaptic boutons at the neuromuscular junction is significantly reduced in mutant third instar larvae compared to wild type, while the number of undifferentiated 'ghost' boutons is significantly increased.

Only a few TorsinKO78/Y adult males survive. These are sterile, have a pale body colour, have short and thin bristles, and move slowly.

Dopamine levels are significantly reduced in adult heads of TorsinKO13/+ adult females compared to wild type. The levels of the dopamine metabolite DOPAC are also decreased in TorsinKO13/+ adult female heads, though not proportional to the reduction in dopamine levels.

Heterozygotes show no significant difference in tyrosine hydroxylase activity, but do show a significant reduction in GTP cyclohydrolase activity, compared to wild type controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

Expression of LpinGD14004 under the control of Scer\GAL4arm.PS fails to rescue the reduced fat body size, but partially rescues the growth defect of fat cells, the reduced body weight, and lethality of hemizygous TorsinKO78 larvae.

Expression of LpinScer\UAS.cUa under the control of Scer\GAL4arm.PS fails to rescue the lethality of hemizygous TorsinKO78 larvae.

LpinKG00562/LpinKG00562, but not LpinKG00562/+, partially rescues the lethality of hemizygous TorsinKO78 larvae.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Expression of TorsinScer\UAS.cWa under the control of Scer\GAL4αTub84B.PL, Scer\GAL4da.G32, Scer\GAL4arm.PS, Scer\GAL4Cg.PA, or Scer\GAL4r4, but not under the control of Scer\GAL4elav-C155, Scer\GAL4btl.PS, Scer\GAL4Mhc.PW, Scer\GAL4fkh.PH, Scer\GAL4Lsp2.PH, Scer\GAL4repo, Scer\GAL4Hml.PG, Scer\GAL4ple.PF, or Scer\GAL4nSyb.PS, partially rescues the lethality of hemizygous TorsinKO78 flies.

Expression of TorsinScer\UAS.cWa under the control of Scer\GAL4αTub84B.PL or Scer\GAL4r4, but not Scer\GAL4nSyb.PS, rescues the small fat body size seen in hemizygous TorsinKO78 flies.

Expression of TorsinScer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4αTub84B.PL partially rescues the lethality of hemizygous TorsinKO78 flies.

Torsin+t1.9 rescues all the phenotypes shown by TorsinKO78/Y hemizygous males.

Expression of TorsinScer\UAS.cWa using either Scer\GAL4Act5C.PU or Scer\GAL4tub.PU rescues all the phenotypes shown by TorsinKO78/Y hemizygous males.

Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (6)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (3)